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Distribution of TYMS,MTHFR, p53 and MDR1 gene polymorphisms in patients with breast cancer treated with neoadjuvant chemotherapy
Authors:Luis Alberto Henríquez-Hernández  Adolfo Murias-Rosales  Ana González-Hernández  Antonio Cabrera de León  Nicolás Díaz-Chico  Leandro Fernández-Pérez
Institution:1. Instituto de Imunogenética—AFIP, Rua Loefgreen 1235, 04040-031 São Paulo, SP, Brazil;2. Universidade Federal de São Paulo, Rua Sena Madureira 1500, 04021-001 São Paulo, SP, Brazil;3. Hospital do Rim e Hipertensão, Rua Borges Lagoa 960, 04038-002 São Paulo, SP, Brazil;4. Universidade Federal do Paraná, Rua XV de Novembro 1299, 80060-000 Curitiba, PR, Brazil;2. Truven Health Analytics, 7700 Old Georgetown Rd., Ste 650, Bethesda, MD 20814, USA
Abstract:Purpose To investigate the role of TSER (TYMS), C677T (MTHFR), Arg72Pro (p53) and C3435T (MDR1) gene polymorphisms in breast cancer patients treated with 5-fluorouracil and cyclophosphamide-based neoadjuvant chemotherapy. Results Observed allelic frequencies were: TSER, (2) 0.54 and (3) 0.46; MTHFR C677T, (C) 0.59 and (T) 0.41; p53 Arg72Pro, (Arg) 0.73 and (Pro) 0.27; MDR1 C3435T, (C) 0.52 and (T) 0.48. MTHFR allele T and p53 allele Pro were strongly associated with toxicity due to chemotherapy (odds ratio, 7.1 (95% confidence interval, 1.4–36.1; p = 0.018) and 7.0 (95% confidence interval, 1.2–40.5; p = 0.029), respectively). Conclusion We introduced new data related to the contribution of p53 codon 72 to toxicity due to 5-fluorouracil and cyclophosphamide-based neoadjuvant chemotherapy in patients with breast cancer.
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